GM22165
LCL from B-Lymphocyte
Description:
BARTH SYNDROME; BTHS
TAFAZZIN; TAZ
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Gene |
TAZ |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
300394.0010; BARTH SYNDROME |
| Identified Mutation |
IVS1-2A>G |
| Remarks |
Clinically affected; affected brother died at age 3 years; affected maternal uncle; cardiomyopathy; short stature; neutropenia; petit mal seizures; protein C deficiency; 3-methylglutaconate in plasma is 1208 nmol/l; donor subject is hemizygous for 3 prime splice acceptor site mutation in the TAZ (G4.5) gene: IVS1-2A>G |
| Johnston J, Kelley RI, Feigenbaum A, Cox GF, Iyer GS, Funanage VL, Proujansky R, Mutation characterization and genotype-phenotype correlation in Barth syndrome American journal of human genetics61:1053-8 1997 |
| PubMed ID: 9345098 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|